FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Thanatophoric Dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913479
rs121913479
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0039743
Disease:
Thanatophoric Dysplasia 		0.010 GeneticVariation BEFREE G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. 9790257 1998